Canonical Allele Identifier: CA397723616

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125496T>A (hg19) ; chr17:g.7222177T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222177T>A , CM000679.2:g.7222177T>A	GRCh38
NC_000017.10:g.7125496T>A , CM000679.1:g.7125496T>A	GRCh37
NC_000017.9:g.7066220T>A	NCBI36
NG_007975.1:g.7344T>A
NG_008391.2:g.2874A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.753T>A MANE Select	ENSP00000349297.5:p.Ser251Arg
ENST00000322910.9:c.*708T>A	ENSP00000325395.5:n.*708T>A
ENST00000350303.9:c.687T>A	ENSP00000344152.5:p.Ser229Arg
ENST00000356839.9:c.753T>A	ENSP00000349297.5:p.Ser251Arg
ENST00000543245.6:c.822T>A	ENSP00000438689.2:p.Ser274Arg
ENST00000577191.5:n.925T>A
ENST00000581378.5:c.471T>A
ENST00000582379.1:n.137T>A
NM_000018.3:c.753T>A	NP_000009.1:p.Ser251Arg
NM_001033859.2:c.687T>A	NP_001029031.1:p.Ser229Arg
NM_001270447.1:c.822T>A	NP_001257376.1:p.Ser274Arg
NM_001270448.1:c.525T>A	NP_001257377.1:p.Ser175Arg
XM_006721516.2:c.753T>A	XP_006721579.2:p.Ser251Arg
XM_011523829.1:c.753T>A	XP_011522131.1:p.Ser251Arg
XM_011523830.1:c.753T>A	XP_011522132.1:p.Ser251Arg
XR_934021.1:n.860T>A
XR_934022.1:n.860T>A
XR_934023.1:n.860T>A
XM_006721516.3:c.753T>A	XP_006721579.2:p.Ser251Arg
XM_011523829.2:c.753T>A	XP_011522131.1:p.Ser251Arg
XM_011523830.2:c.753T>A	XP_011522132.1:p.Ser251Arg
XM_024450741.1:c.753T>A	XP_024306509.1:p.Ser251Arg
XR_934021.2:n.812T>A
XR_934022.2:n.812T>A
XR_934023.2:n.812T>A
NM_000018.4:c.753T>A MANE Select	NP_000009.1:p.Ser251Arg
NM_001033859.3:c.687T>A	NP_001029031.1:p.Ser229Arg
NM_001270447.2:c.822T>A	NP_001257376.1:p.Ser274Arg
NM_001270448.2:c.525T>A	NP_001257377.1:p.Ser175Arg